ClinVar

NM_000016.6(ACADM):c.946-4C>A

Gene:

ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75761118 (on Assembly GRCh38)
• Chr1: 76226803 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.946-4C>A

HGVS:

• NC_000001.11:g.75761118C>A
• NG_007045.2:g.41761C>A
• NM_000016.6:c.946-4C>AMANE SELECT
• NM_001127328.3:c.958-4C>A
• NM_001286042.2:c.838-4C>A
• NM_001286043.2:c.1045-4C>A
• NM_001286044.2:c.379-4C>A
• LRG_838:g.41761C>A
• NC_000001.10:g.76226803C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs752961658

NCBI 1000 Genomes Browser:

rs752961658

Molecular consequence:

• NM_000016.6:c.946-4C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127328.3:c.958-4C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286042.2:c.838-4C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286043.2:c.1045-4C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286044.2:c.379-4C>A - intron variant - [Sequence Ontology: SO:0001627]